ABCMdb

PMID: 15531750

Kraemer R, Blum A, Schibler A, Ammann RA, Gallati S
Ventilation inhomogeneities in relation to standard lung function in patients with cystic fibrosis.
Am J Respir Crit Care Med. 2005 Feb 15;171(4):371-8. Epub 2004 Nov 5., 2005-02-15 [PubMed]

Sentences

No. Mutations Sentence Comment

46 ABCC7 p.Arg553* From the 142 patients with CF, 68 males (47.8%) and 74 females (52.2%), 83 patients (58.3%) were homozygous for the ⌬F508(2) mutation, 13 patients (9.2%) were compound heterozygous for the ⌬F508 and 3905ins frameshift mutation (second most frequent in Switzerland), 12 patients (8.5%) presented as compound heterozygous for the ⌬F508 and R553X nonsense mutation, and 34 patients (23.9%) had other miscellaneous genotypes. Login to comment 47 ABCC7 p.Gln525* Ten patients died during the observation period (four ⌬F508(2) homozygotes at mean age 14.2 Ϯ 6.9 years; five 3905insT/⌬F compound heterozygotes at mean age 14.7 Ϯ 4.8 years; and one Q525X/⌬F at age 18.4 years). Login to comment 49 ABCC7 p.Arg553* DETAILS OF STUDY POPULATION n % Patient collective 142 Males 68 47.8 Females 74 52.2 CFTR grouped by specific genotypes ⌬F508(2) 83 58.5 3905insT/⌬F 13 9.2 R553X/⌬F 12 8.5 Miscellaneous 34 23.9 Onset of chronic Pseudomonas aeruginosa infection grouped by age of onset Until age 3 yr 42 29.6 After age 3 yr 69 48.6 Infection free 31 21.8 (48.6%) late onset of chronic P. aeruginosa infection (age Ͼ 3 years). Login to comment